rs143473232, HARS1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
CUI: C4225265
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
9 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.800 1.000 3 2013 2018
Peripheral Nervous System Diseases
CUI: C4721453
Disease: Peripheral Nervous System Diseases
69 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 1.000 5 140679789 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2015 2015